期刊
GENOME BIOLOGY
卷 12, 期 9, 页码 -出版社
BIOMED CENTRAL LTD
DOI: 10.1186/gb-2011-12-9-r86
关键词
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资金
- Jackson Laboratory [NICHD P01 HD42137]
- Broad Institute [28]
- Australian Phenomics Network
- Mouse Mutant Resource
- Craniofacial Resource at The Jackson Laboratory [NIH-NCRR RR001183, NEI EY015073]
- Don Monti Memorial Research Foundation
- Mouse Models of Human Cancer Consortium [5U01 CA105388]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [P01HD042137] Funding Source: NIH RePORTER
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [U01HD039372] Funding Source: NIH RePORTER
- NATIONAL CANCER INSTITUTE [R01CA115503, U01CA105388] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [P40RR001183] Funding Source: NIH RePORTER
- NATIONAL EYE INSTITUTE [R01EY015073] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U41HG000330] Funding Source: NIH RePORTER
We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and autoimmune hepatitis.
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